A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517233



Internal ID6015351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53175557..53321002hg19UCSC Ensembl
Innerchr3:53150597..53296042hg18UCSC Ensembl
Innerchr3:53150597..53296042hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv682709, nssv654081, nssv660457, nssv658352, nssv652669, nssv705763, nssv677479, nssv656747, nssv692851, nssv669562
Samples
Known GenesDCP1A, PRKCD, TKT
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517233
Frequency
Sample Size2026
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer